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782945001: Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756887017 Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756888010 Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756889019 Levic Stefanovic Nikolic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756890011 A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14545181000172114 syndrome d'ophtalmoplégie, déficience intellectuelle et langue scrotale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14545191000172112 syndrome de Levic-Stefanovic-Nikolic fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4891951000172112 syndroom van oftalmoplegie, verstandelijke handicap en fissuurtong nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4891961000172114 syndroom van oftalmoplegie, mentale retardatie en lingua scrotalis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4891971000172117 syndroom van oftalmoplegie, verstandelijke beperking en lingua fissurata nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4891981000172119 Levic-Stefanovic-Nikolic-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Congenital anomaly of tongue false Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Congenital plicated tongue (disorder) true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a External ophthalmoplegia true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Congenital nuclear ophthalmoplegia true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Finding site Eye structure false Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Finding site Eyelid structure true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Finding site Structure of dorsum of anterior tongue true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Associated morphology Fissure true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Finding site Medial longitudinal fasciculus structure (body structure) false Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Congenital anomaly of orbit true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Finding site Medial longitudinal fasciculus structure (body structure) true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Combined malformation of central nervous system and skeletal muscle (disorder) true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets Intellectual ability (observable entity) false Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets Adaptation behavior (observable entity) false Inferred relationship Some 6
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a Paralysis of tongue true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets Movement true Inferred relationship Some 8
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets Movement observable true Inferred relationship Some 7
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Has interpretation Absent true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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